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Clinical practice guideline: early detection of developmental dysplasia of the hip. Committee on Quality Improvement, Subcommittee on Developmental Dysplasia of the Hip. American Academy of Pediatrics.

Developmental dysplasia of the hip is the preferred term to describe the condition in which the femoral head has an abnormal relationship to the acetabulum. Developmental dysplasia of the hip includes frank dislocation (luxation), partial dislocation (subluxation), instability wherein the femoral head comes in and out of the socket, and an array of radiographic abnormalities that reflect inadequate formation of the acetabulum. Because many of these findings may not be present at birth, the term developmental more accurately reflects the biologic features than does the term congenital. The disorder is uncommon. The earlier a dislocated hip is detected, the simpler and more effective is the treatment. Despite newborn screening programs, dislocated hips continue to be diagnosed later in infancy and childhood,(1-11) in some instances delaying appropriate therapy and leading to a substantial number of malpractice claims. The objective of this guideline is to reduce the number of dislocated hips detected later in infancy and childhood. The target audience is the primary care provider. The target patient is the healthy newborn up to 18 months of age, excluding those with neuromuscular disorders, myelodysplasia, or arthrogryposis.

Algorithms↗

Multi-minicore disease revisited.

Multi-minicore disease (MmD) is an infrequent congenital myopathy, defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles. Clinical variants also exist. Usually MmD is inherited as an autosomal recessive trait. Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected. We record three unrelated cases of MmD. Case 1, with the classical benign form, was followed-up for 15 years. Case 2, presenting pharyngolaryngeal involvement and severe delay of head control, improved gradually, until independent gait was acquired at age of six years. A moderate restriction of daily life activities remains. Case 3, of antenatal-onset, was expressed by arthrogryposis of hands, predominance of scapular girdle deficit and a stable course after ten years on physiotherapy. All cases were selected by the characteristic morphological abnormalities in biceps brachii samples, including electron microscopy. Emphasis is given to case 2 due to type 1 fiber uniformity and mild endomysial fibrosis, posing a difficult differential diagnosis with congenital muscular dystrophy were it not for the significant number of multi-minicores.

Adolescent↗

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.

Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosis (MIM 23250), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme (GBE) leading to the accumulation of amylopectin-like structures in affected tissues. The disease is extremely heterogeneous in terms of tissue involvement, age of onset and clinical manifestations. The human GBE cDNA is approximately 3-kb in length and encodes a 702-amino acid protein. The GBE amino acid sequence shows a high degree of conservation throughout species. The human GBE gene is located on chromosome 3p14 and consists of 16 exons spanning at least 118 kb of chromosomal DNA. Clinically the classic Andersen disease is a rapidly progressive disorder leading to terminal liver failure unless liver transplantation is performed. Several mutations have been reported in the GBE gene in patients with classic phenotype. Mutations in the GBE gene have also been identified in patients with the milder non-progressive hepatic form of the disease. Several other variants of GSD-IV have been reported: a variant with multi-system involvement including skeletal and cardiac muscle, nerve and liver; a juvenile polysaccharidosis with multi-system involvement but normal GBE activity; and the fatal neonatal neuromuscular form associated with a splice site mutation in the GBE gene. Other presentations include cardiomyopathy, arthrogryposis and even hydrops fetalis. Polyglucosan body disease, characterized by widespread upper and lower motor neuron lesions, can present with or without GBE deficiency indicating that different biochemical defects could result in an identical phenotype. It is evident that this disease exists in multiple forms with enzymatic and molecular heterogeneity unparalleled in the other types of glycogen storage diseases.

1,4-alpha-Glucan Branching Enzyme↗

A congenital variant of glycogenosis type IV.

Three related patients are described with glycogenosis type IV with an unusual clinical presentation resulting in perinatal death. Stored material showed birefringent Maltese crosses and was present in skeletal muscles, heart, central nervous system, and liver. Muscular dysfunction resulted in a fetal hypokinesia sequence with arthrogryposis and lung hypoplasia. A subdivision of glycogenosis type IV in four subtypes is proposed, based on age of onset. Measurement of the enzyme activities in different tissues does not permit, at the moment, a distinction between the subtypes.

1,4-alpha-Glucan Branching Enzyme↗

The nature of congenital limb defects induced in lambs by maternal ingestion of Veratrum californicum.

Groups of ewes were gavaged Veratrum californicum root-rhizome material over various 3 day periods during early gestation and their late-term fetuses examined. Resulting from gavage near day 29 were shortening of fetal metacarpal, metatarsal and tibial bones. Fibulae bowed severely when tibiae were shortened. Medial bowing of forelimbs at the fetlocks resulted from unequal shortening of fused metacarpi. Severe joint articular surface defects and arthrogryposis were present in some of the lambs from treatment ewes. There was bilateral and twinning symmetry in limb bone shortening. Severity of limb defects varied with gestational stage at time of gavage.

Animals↗

Multiple congenital contractures (MCC) and cleft palate induced in goats by ingestion of piperidine alkaloid-containing plants: reduction in fetal movement as the probable cause.

Fetal movement, observed by ultrasound imaging, was significantly reduced (P less than or equal to 0.001) in pregnant goats gavaged with Conium seed and Nicotiana glauca and temporarily reduced with fresh Conium plant. Conium seed and Nicotiana glauca induced cleft palate and multiple congenital contractures in 100% of the kids born to pregnant goats gavaged with these plants. Multiple congenital contractures included torticollis, scoliosis, lordosis, arthrogryposis, rib cage anomalies, over extension, and flexure and rigidity of the joints. However, in goats gavaged with fresh Conium plant, fetal movement was inhibited for only about 5 hours after each individual dosage and gradually returned to control levels 12 hours after dosing. Fetal malformations in this group were limited from modest to moderate contractures of the front limbs, which resolved by 8-10 weeks post partum. No cleft palates were induced. Fetal movement was not inhibited in goats fed Lupinus caudatus and no cleft palates or multiple congenital contractures were induced in their offspring. The duration of the reduction in fetal movement appears to be an important factor in the severity and permanence of the deformities, particularly with cleft palate, spinal column defects, and severe joint deviation and fixation.

Abnormalities, Drug-Induced↗

Neonatal hip instability. Reason for failure of early abduction treatment.

A series of nine children with hip joint instability in 17 hips, diagnosed neonatally, is presented. Seven had bilateral idiopathic instability and two instability secondary to arthrogryposis, one of them bilateral. After reduction seven of the children (14 hips) were treated with abduction devices, which in all cases did not lead to stability in one or both hips. In these cases arthrography revealed that closed reduction was impossible due to narrowing of the joint capsule (hour-glass shape) and the interposition of a capsular fold including the acetabular labrum. The same types of changes were seen within 1 or 2 months after birth in three hips which had had no abduction treatment before arthrography. At open reduction of 11 hips it was found that the narrowing of the capsule was caused by the tendons of the iliopsoas and rectus femoris muscles. Excision of the capsular fold (labrum) was not necessary. The femoral head was deformed and anteverted. Failure of conservative treatment can be due either to incomplete reduction or to inadequate immobilization. Our analysis has shown that the most probable reason is incomplete reduction due to interposition. An obstacle to reduction should be suspected if abduction is restricted at birth, if primary reduction is difficult and the position difficult to maintain or if instability persists after 8 weeks of treatment. On the basis of our material the incidence of such an impediment to reduction was 0.08 per thousand births in the region studied during a 5-year period.

Acetabulum↗

Teratologic congenital dislocation of the hip. Report of two cases.

The incidence of teratologic dislocation of the hip is about 0.04 per thousand. Teratologic CDH is usually described together with other anomalies, such as arthrogryposis. Quite different opinions about the diagnostic criteria are found in the literature; some of these are reviewed in this report. Two cases of teratologic CDH with no other anomalies are also reported. Computer tomography was used to confirm reduction in plaster when conventional radiologic examination gave ambiguous results.

Child, Preschool↗

Clubfoot deformity in Down's syndrome.

The association of Down's syndrome (trisomy 21) with clubfeet has not previously been elaborated. Eight patients with a total of 15 clubfeet were identified for review. Five of these had trisomy 21 noted by chromosomal analysis, and 1 had a mosaic pattern. Two patients did not have chromosomal documentation, but had characteristic features of Down's syndrome. Interestingly, 2 patients had evidence of arthrogryposis as well as Down's syndrome. Four of the 8 patients had other orthopedic anomalies, including scoliosis, atlantoaxial instability, brachydactyly, and coxa valga. All 8 patients had an initial period of casting prior to any surgical intervention. Fourteen of the 15 feet required surgical intervention to afford correction of the deformity. The 6 feet with relatively long-term follow up (average: 5 years) showed that there was 1 excellent, 4 good, and 1 fair result using the criteria of Turco. It appears that, even though Down's syndrome is usually characterized by ligamentous laxity, when clubfeet are associated with this syndrome they are often resistant to nonoperative treatment, and surgical treatment seems to produce an acceptable result.

Casts, Surgical↗

Eagle-Barrett syndrome: occurrence and outcomes.

OBJECTIVE: To examine the occurence and outcomes of African babies born with features of Eagle-Barret syndrome at a tertiary health centre. DESIGN: Case series. SETTING: University Teaching Hospital, Yaounde, Cameroon. SUBJECTS: Patients were identified through a retrospective review of obstetric records of mothers admitted at the centre within the period 1984 to 1996 inclusive. A total of eleven cases were identified over a period of thirteen years. RESULTS: The most prominent associated defects consisted of clubfoot, pulmonary hypoplasia, Potter's facies, imperforate anus and arthrogryposis. None of our patients survived the perinatal period. CONCLUSION: Our study indicates the need for the establishment of a prenatal and cytogenetic infrastructure in Cameroon to enhance early detection of congenital malformation and chromosomal aberrations. In the meantime, early detection of foetuses with Eagle-Barret syndrome using ultrasound could facilitate timely institutions of antenatal management options and lead to favourable birth outcomes of affected babies.

Abnormalities, Multiple↗

Melorheostosis in a pediatric patient.

Melorheostosis is a nonhereditary and uncommon condition that can affect both adults and children. It can appear on radiographs as increased sclerosis on bones of the upper and lower extremities and may mimic other bony conditions such as osteopoikilosis, osteopetrosis, arthrogryposis multiplex congenita, and osteopathia striata. The sclerotic appearance can differ greatly between adults and children. The skin and subcutaneous tissues may be affected by fibrosis, resulting in contractures of joints and limbs that lead to deformities and limb-length discrepancies. This article reviews the literature on melorheostosis and describes a case in a 10-year-old boy.

Child↗

Fetus acardius: two- and three-dimensional ultrasonographic diagnoses.

OBJECTIVE: To determine whether ultrasonographic detection of acardiac fetuses and diagnostic accuracy of related malformations improve with complementary use of two-dimensional ultrasonography, three-dimensional ultrasonography, and Doppler scanning. METHODS: Three pregnant women with multifetal gestations who were found to have discordant fetuses on initial two-dimensional ultrasonographic scanning were subsequently scanned with three-dimensional ultrasonography and color Doppler ultrasonography. RESULTS: Although the possibility of acardiac fetuses was entertained in all cases after two-dimensional ultrasonographic scanning, the diagnosis was confirmed, and the accuracy and extent of fetal malformations were established with three-dimensional ultrasonography and color Doppler scanning. Two of the women had twin gestations, and the third woman had a triplet gestation. Among the women with twin gestations, 1 donor twin had no abnormalities, and the other donor twin had a diagnosis of arthrogryposis and gastroschisis. The woman with triplets had 1 acardiac fetus; the donor fetus was anencephalic; and the third fetus had alobar holoprosencephaly. CONCLUSIONS: Complementary use of two-dimensional ultrasonography, three-dimensional ultrasonography, and color Doppler scanning improves diagnostic accuracy and the ability to evaluate the extent and severity of organ compromise in pregnancies complicated by acardiac fetuses.

Adult↗

Antenatal detection of skeletal dysplasias.

OBJECTIVE: To assess the accuracy of the prenatal diagnosis of skeletal dysplasias. METHODS: All antenatally detected anomalies are coded in our ultrasound database, which is linked with a genetics database that includes outcomes. A final diagnosis is sought on the basis of radiographic studies, molecular testing, or both. Our ultrasound and genetics databases were queried for "skeletal dysplasias." All cases were reviewed specifically for the degree of bone shortening and other distinguishing characteristics on antenatal sonography. RESULTS: Thirty-seven cases of skeletal dysplasia were antenatally diagnosed over an 8-year period. Complete follow-up was available in 31 cases. The mean gestational age at diagnosis was 22.7 weeks (range, 14-32.3 weeks). Twenty-one cases were diagnosed before 24 weeks. A final diagnosis was obtained in 80% of cases. The antenatal diagnosis was correct in 20 (65%) of 31 cases. There were 2 false-positive diagnoses. Specific final diagnoses included thanatophoric dysplasia (8), osteogenesis imperfecta (6), Roberts syndrome (2), achondroplasia (3), Ellis-van Creveld syndrome (1), metaphyseal dysplasia (1), spondyloepiphyseal dysplasia (1), distal arthrogryposis (1), caudal regression (1), and glycogen storage disorder (1). The condition was correctly thought to be lethal in 16 of the fetuses on the basis of early severe long bone shortening (13), femur length-abdominal circumference ratio of less than 0.16 (12), hypoplastic thorax (10), marked bowing or fractures (4), short ribs (4), caudal regression (1), and cloverleaf skull (1). The ability to predict lethality was 100%. There were no false-positive findings with respect to lethality. CONCLUSIONS: Accurate antenatal diagnosis of skeletal dysplasias is problematic; in this series, only 20 of 31 cases were correctly diagnosed. However, the antenatal prediction of lethality was highly accurate. The most common predictors of lethal skeletal dysplasias included early and severe shortening of the long bones, femur length-abdominal circumference ratio of less than 0.16, hypoplastic thorax, and certain distinguishing characteristics.

Abdomen↗

Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence.

OBJECTIVE: To present the appearance of the fetal akinesia deformation sequence by three-dimensional ultrasonography after four-dimensional ultrasonographic scanning. METHODS: Three-dimensional surface-rendering images were used to show the fixed postural abnormalities of the fetal extremities and body. Four-dimensional ultrasonography was used to show that the postural abnormalities were fixed and to confirm the absence of fetal movements. These images were compared with the postmortem examination findings. RESULTS: Three-dimensional ultrasonographic images of 3 cases of fetal akinesia deformation sequence are presented. Surface-rendering imaging and imaging in the skeletal mode were performed to show the postural abnormalities and the arthrogryposis. CONCLUSIONS: Facilitated by polyhydramnios, three- and four-dimensional ultrasonography provided clear images of the fixed postural abnormalities, which were confirmed by postmortem examination. Although prenatal diagnosis can be easily made by conventional ultrasonography, three-dimensional ultrasonography might be used as a confirmatory approach. In addition, the quality of recent three-dimensional imaging might help prenatal counseling by providing images more readily understandable to the parents than those obtained by two-dimensional ultrasonography.

Female↗

[The experience in employing reciprocal gait orthoses].

The paper presents the experience of the authors in employing reciprocal gait orthoses in a group of 23 patients age 3-25 years (mean age 7.8 years). The orthoses were indicated in patients with flaccid paresis (17 children with myelodysplasia and 3 patients with traumatic paraplegia) and with arthrogryposis (3 patients). The follow-up period was 6 months to 5 years (mean 2.4 years). The authors discuss the principles of construction and operation of reciprocal gait orthoses and types of patients in whom they are recommended. The principles of learning walking and using the orthosis are also presented.

Adolescent↗

The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism and asymmetry are considered typical features of the syndrome, although the range of phenotypic variance is unknown. Fifty seven subjects varying in age from 0.84 to 35.01 years, in whom the diagnosis of SRS had been considered definite or likely, were re-evaluated in a combined clinical and molecular study by a single observer (SMP). In 50 patients the clinical findings complied with a very broad definition of SRS. Notable additional findings included generalised camptodactyly seen in 11 (22%), many with distal arthrogryposis. Thirteen of the 25 males required genital surgery for conditions including hypospadias and inguinal hernia. Fourteen (36.8%) subjects above school age have received a statement of special educational needs. Molecular genetic analysis was performed in 42 subjects and has identified maternal uniparental disomy of chromosome 7 in four. The phenotype was generally milder with birth weights for one patient above and three below -2 SD from the mean. Two children had classical facial dysmorphic features, and two had a milder facial phenotype. Of relevance to the possible molecular mechanism underlying this condition, none of the four disomic patients had significant asymmetry.

Abnormalities, Multiple↗

[Epidemiological study of Steinert's congenital myotonic dystrophy: dysmorphological characteristics].

OBJECTIVE: Steinert's congenital myotonic dystrophy (CMD) is a systemic disease with autosomal mother-to-child transmission and characterized by generalized hypotonia, areflexia, facial diplegia, respiratory and alimentary diseases, arthrogryposis, polyhydramnios, etc. We present the study of the clinical and epidemiological characteristics of Steinert's CMD in our population, with special attention to its dysmorphological features. PATIENTS AND METHODS: In this study we present the analysis of 12 cases of Steinert's CMD identified among 26,956 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and March 1998. RESULTS: The minimum estimation of the prevalence in our population is 0.08 per 10,000 live births. We have epidemiologically observed in newborns with Steinert's CMD the presence of a statistically significant difference in the following variables: lower gestational age and birth weight, more polyhydramnios, more feet presentations and Cesarean sections, and a higher frequency of similar congenital defects in first degree relatives. The congenital defects most frequently associated to our population of CMD are located in the extremities, the head and face. CONCLUSIONS: It is important to recognize the congenital defects associated with neuromuscular disorders in the neonatal period, and particularly, the wide spectrum of Steinert's CMD that results in a fetal hypokinesia deformation sequence.

Case-Control Studies↗

[Neonatal hypotonia].

INTRODUCTION: Neonatal hypotonia is a condition which appears to expand continually. Since the 1980s new clinical disorders, such as mitochondriopathies, peroxisomal diseases, disorders of the beta-oxidation of fatty acids, congenital myasthenic syndromes and botulism in infants have been described. At the same time, considerable progress has been made in the understanding of congenital myopathies, congenital muscular dystrophy and neonatal myotonic dystrophy. In this review we describe the most relevant conditions in which hypotonia is seen, and give guidelines for orientation in the study of newborn babies with this condition. We emphasize the importance of a clinical approach based on the family history (myotonic dystrophy, transitory neonatal myasthenia), the prenatal history (fetal movements, polyhydramnios) and neurological examination (facial diplegia, lingual fasciculations, arthrogryposis, respiratory difficulty) which permits early completion of studies, including muscle biopsy--very useful in the neonatal period--and genetic analysis. This allows the prognosis of the condition to be established early so that timely and effective genetic counselling may be given to the parents, avoiding recurrence of the serious morbi-mortality of many of these conditions.

Guidelines as Topic↗